An FDA-approved drug can reverse an ionic imbalance in neurons that leads to hyper-excitability in mice modeling an autism-related genetic disorder, according to a Northwestern Medicine study published in Molecular Psychiatry.
May 8, 2018
0
1505
A widely used diabetes medication could help people with a common inherited form of autism, research shows.
May 15, 2017
1
1479
New work from Carnegie's Ethan Greenblatt and Allan Spradling reveals that the genetic factors underlying fragile X syndrome, and potentially other autism-related disorders, stem from defects in the cell's ability to create ...
Aug 16, 2018
0
1089
A new drug discovered through a research collaboration between the University at Buffalo and Tetra Therapeutics may protect against memory loss, nerve damage and other symptoms of Alzheimer's disease.
Sep 9, 2019
1
176
Fragile X syndrome, or FXS, a leading genetic cause of autism, affects around one in 4,000 males and one in 6,000 females. Its symptoms include increased anxiety, intellectual disability, repetitive behaviors, social communication ...
Dec 13, 2021
0
75
The most common form of heritable cognitive impairment is Fragile X Syndrome, caused by mutation or malfunction of the FMR1 gene. Loss of FMR1 function is also the most common genetic cause of autism. Understanding how this ...
Oct 30, 2011
0
0
Using a genetic technique that allows certain neurons in the brain to be switched on or off, UCLA scientists reversed a sensory impairment in mice with symptoms of autism, enabling them to learn a sensory task as quickly ...
Sep 25, 2018
0
543
Fresh insights into changes in the brain linked to depression could pave the way for new therapies.
Feb 26, 2018
0
191
Autistic-like behaviors can be partially remedied by normalizing excessive levels of protein synthesis in the brain, a team of researchers has found in a study of laboratory mice. The findings, which appear in the latest ...
Dec 23, 2012
0
0
Researchers at the National Institutes of Health have discovered in mice what they believe is the first known genetic mutation to improve cognitive flexibility—the ability to adapt to changing situations.
Mar 27, 2020
0
395
Fragile X syndrome, or Martin-Bell syndrome, is a genetic syndrome which results in a spectrum of characteristic physical, intellectual, emotional and behavioural features which range from severe to mild in manifestation.
The syndrome is associated with the expansion of a single trinucleotide gene sequence (CGG) on the X chromosome, and results in a failure to express the FMR1 protein which is required for normal neural development. There are four generally accepted forms of Fragile X syndrome which relate to the length of the repeated CGG sequence; Normal (29-31 CGG repeats), Premutation (55-200 CGG repeats), Full Mutation (more than 200 CGG repeats), and Intermediate or Gray Zone Alleles (40 - 60 repeats).
Martin and Bell in 1943, described a pedigree of X-linked mental disability, without considering the macroorchidism (larger testicles). In 1969 Chris and Weesam first sighted an unusual "marker X chromosome" in association with mental disability. In 1970 Frederick Hecht coined the term "fragile site".
Renpenning's syndrome is not synonymous with the syndrome. In Renpenning's syndrome, there is no fragile site on the X chromosome. Renpenning's cases have short stature, moderate microcephaly, and neurological (brain) disorders.
Escalante's syndrome is synonymous with the fragile X syndrome. This term has been used in Brazil and other South American countries.
This text uses material from Wikipedia, licensed under CC BY-SA
